The 60th Annual Meeting of the American Society of Human Genetics (ASHG 2010), Washington D.C., 2-6 November 2010. How to Cite?

Abstract

Anorectal malformations (ARM) represent a complex group of congenital diseases characterized by the obstruction of anal opening. Occurring in 1 out of every 4,000 to 5,000 individuals, ARMs are one of the most common pediatric surgical problems. The spectrum of ARMs ranges from anal stenosis to anal atresia/imperforated anus with/without fistula to persistent cloaca. The etiology of ARMs remains unknown, although there is strong evidence for a genetic component. This is indicated by the very early developmental disruption, its recurrence in families and the high concordance of its existence with some abnormalities. Though several candidate genes e.g. endothelin-β receptor (EDNRB) and sonic hedgehog (Shh) were proposed for their potential roles in the development of ARMs, the causes of ARMs still remain unknown. To explore the genetic contribution to the pathogenesis of ARM, we performed systematic analyses of genetic markers, in 176 Chinese patients and 2986 ethnically matched individuals as controls. The genome-wide association study (GWAS) was performed using the Illumina Human 610-Quad BeadChips with 488, 394 SNPs successfully genotyped. An association peak encompassing two gene members of the solute carrier (SLC) family was observed, with p-value= (odds ratio 1.94, 95% CI: 1.54-2.45 for allele C) for the most associated SNP (rs11045422). To confirm the observed association, those statistically significant SNPs will be genotyped in an independent set of cases and controls. Bioinformatics and experimental analysis will be used to study the biological relevance of SLC genes in ARMs.

The 60th Annual Meeting of the American Society of Human Genetics (ASHG 2010), Washington D.C., 2-6 November 2010.

en_US

dc.identifier.uri

http://hdl.handle.net/10722/136027

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dc.description

Poster Presentation: abstract 2942/T

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dc.description.abstract

Anorectal malformations (ARM) represent a complex group of congenital diseases characterized by the obstruction of anal opening. Occurring in 1 out of every 4,000 to 5,000 individuals, ARMs are one of the most common pediatric surgical problems. The spectrum of ARMs ranges from anal stenosis to anal atresia/imperforated anus with/without fistula to persistent cloaca. The etiology of ARMs remains unknown, although there is strong evidence for a genetic component. This is indicated by the very early developmental disruption, its recurrence in families and the high concordance of its existence with some abnormalities. Though several candidate genes e.g. endothelin-β receptor (EDNRB) and sonic hedgehog (Shh) were proposed for their potential roles in the development of ARMs, the causes of ARMs still remain unknown. To explore the genetic contribution to the pathogenesis of ARM, we performed systematic analyses of genetic markers, in 176 Chinese patients and 2986 ethnically matched individuals as controls. The genome-wide association study (GWAS) was performed using the Illumina Human 610-Quad BeadChips with 488, 394 SNPs successfully genotyped. An association peak encompassing two gene members of the solute carrier (SLC) family was observed, with p-value= (odds ratio 1.94, 95% CI: 1.54-2.45 for allele C) for the most associated SNP (rs11045422). To confirm the observed association, those statistically significant SNPs will be genotyped in an independent set of cases and controls. Bioinformatics and experimental analysis will be used to study the biological relevance of SLC genes in ARMs.

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dc.language

eng

en_US

dc.publisher

The American Society of Human Genetics.

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dc.relation.ispartof

Annual Meeting of the American Society of Human Genetics, ASHG 2010

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dc.title

Genomi-wide association study on anorectal malformations in the Chinese population

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dc.type

Conference_Paper

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dc.identifier.email

Wong, EHM: emilywongmm@yahoo.com.hk

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dc.identifier.email

Tang, CSM: claratang@hku.hk

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dc.identifier.email

Cherny, SS: cherny@hku.hk

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dc.identifier.email

Sham, PC: pcsham@.hku.hk

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dc.identifier.email

Tam, PKH: paultam@hku.hk

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dc.identifier.authority

Cherny, SS=rp00232

en_US

dc.description.nature

link_to_OA_fulltext

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dc.identifier.hkuros

188450

en_US

dc.publisher.place

United States

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dc.description.other

The 60th Annual Meeting of the American Society of Human Genetics (ASHG 2010), Washington D.C., 2-6 November 2010.